Table 5. Overview of the clinical aspects of the fetuses with clinically significant CNVs detected in the further-test study with normal karyotype.
| Case No. | Gest (w) | Sample type | DS +ve | Ultrasound abnormalities | Karyotype | Array results | CNV size and type | Locus/syndrome | Outcome | Phenotype and other information |
| 1 | 23+4 | AF | Y | Absent corpus callosum, prominent posterior horn of lateral ventricle. MRI fetal brain: Absent cerebellar vermis, complete absence of corpus callosum | 46,XX | arr 1p32.1p31.3(60,638,478-64,100,969)×1 dn | 3.46 Mb loss | NFIA haplo-insufficiency | TOP at 23+4w | Postmortem: absence of cerebellar vermis and corpus callosum |
| 2 | 21 | AF | N | Left axis deviation, TOF with VSD, over-riding aorta, small PA | 46,XY | arr 22q11.21(17,299,469-19,790,658)×1 | 2.49 Mb loss | 22q11.2 microdeletion | TOP at 22w | Postmortem: TOF |
| 3 | 33 | AF | N | Polyhydramnios, short limbs, small stomach bubble | 46,XY | arr 14q32.2q32.31(99,890,594-101,081,825)×1 mat | 1.19 Mb loss | UPD(14)pat-like phenotype | Live birth at 34w, 2.41 kg | Newborn with pharyngolaryngomalacia and obstructive sleep apnoea syndrome |
| 4 | 12+2 | CV | Y | Cystic hygroma, subcutaneous oedema, exomphalos | 46,XY | arr 8p23.1(8,146,273-11,895,875)×1 | 3.75 Mb loss | 8p23.1 Microdeletion | Live birth at 39w, 2.96 kg | Secundum ASD. |
| 5 | 12+ | CV | N | Skin oedema and NT 6 mm | 46,XY | arr 10p15.3p13(128,680-15,889,188)×3,13q33.1q34(102,510,400-114,109,838)×1 | 15.76 Mb gain in 10p; 11.60 Mb loss in 13q | Unbalanced translocation (10;13) | TOP at 23w | USS at 21w: bilateral pleural effusion and ascites, amniocentesis performed for aCGH. Missed karyotype in CV, detected after aCGH in AF. Postmortem: hydrops fetalis (bilateral pleural effusion and ascites), polydactyly of right hand. Updated karyotype: 46,XY,der(13)t(10;13)(p13;q33)pat |
| 6 | 13 | CV | N | Fetal cardiomegaly, placentomegaly | 46,XX | arr 16p13.3(162,893-169,832)×0 | 6.94 kb 2-copy loss | Hb Bart's disease | TOP at 14w | No information |
| 7 | 16+2 | AF | N | Placenta thickened, increased CT ratio, abnormal hands+feet | 46,XX | arr 16p13.3(162,893-169,832)×0 | 6.94 kb 2-copy loss | Hb Bart's disease | TOP at 17w | Abnormal hands & feet, cardiac hypertrophy |
| 8 | 13+1 | CV | N | Placentomegaly, cardiomegaly | 46,XX | arr 16p13.3(162,893-169,832)×0 | 6.94 kb 2-copy loss | Hb Bart's disease | TOP at 14w | Cardiomegaly |
| 9 | 32 | FB | N | USS: fetal hydrops with ascites & cardiomegaly, dilated RA, left to right shunt, MCA PSV normal | 46,XX | arr 16p13.3(162,893-169,832)×0 | 6.94 kb 2-copy loss | Hb Bart's disease | Emergency Caesarean section at 32+1w, 1.48 kg, NND | Postmortem: ASD and pulmonary hypoplasia, placental hydrops |
AF: amniotic fluid; ASD: atrial septal defect; CT: cardio-thoracic; CV: chorionic villi; DORV: double outlet right ventricle; DS: Down syndrome screening; FB: fetal blood; FU: follow up; Gest: Gestation; Hb: haemoglobin; N: not DS +ve or not mentioned; NND: neonatal death; PA: pulmonary artery; PS: pulmonary stenosis; TOF: Tetralogy of Fallot; TOP: termination of pregnancy; USS: ultrasound: VSD: ventricular septal defect; w: weeks; Y:yes; +ve: positive.